A5056071177- Congenital heart defects research
- Axon Guidance and Neuronal Signaling
- Angiogenesis and VEGF in Cancer
- Apelin-related biomedical research
- Renal and related cancers
- Congenital Heart Disease Studies
- Neonatal Respiratory Health Research
- Coronary Artery Anomalies
- Electrolyte and hormonal disorders
- Genetic and Kidney Cyst Diseases
- Urological Disorders and Treatments
- Pulmonary Hypertension Research and Treatments
- Congenital Diaphragmatic Hernia Studies
- Hippo pathway signaling and YAP/TAZ
- Cardiovascular Issues in Pregnancy
- Pregnancy and preeclampsia studies
- Congenital gastrointestinal and neural anomalies
- Nuclear Receptors and Signaling
- Developmental Biology and Gene Regulation
- Liver physiology and pathology
- Lymphatic System and Diseases
- Congenital Ear and Nasal Anomalies
- Renal cell carcinoma treatment
- Pancreatic function and diabetes
- Hedgehog Signaling Pathway Studies
Inserm
2003-2024
Hôpital Tenon
2017-2024
Sorbonne Université
2000-2024
Maladies rénales fréquentes et rares : des mécanismes moléculaires à la médecine personnalisée
2022
Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation
2021
University College London
2009-2018
Great Ormond Street Hospital
2018
Fox Chase Cancer Center
2006-2008
Institut Pasteur
2003
Université Paris Cité
2000
Elucidating the gene regulatory networks that govern pharyngeal arch artery (PAA) development is an important goal, as such knowledge can help to identify new genes involved in cardiovascular disease. The transcription factor Tbx1 plays a vital role PAA and major contributor disease associated with DiGeorge syndrome. In this report, we used various genetic approaches reveal part of signalling network by which controls mice. We investigated crucial played homeobox-containing Gbx2 downstream...
IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) short rib polydactyly (SRP) type III. Both diseases are autosomal recessive chondrodysplasias share clinical radiological similarities, including shortening long bones constriction cage. A murine Ift80 gene-trap line was used to investigate role during development. The homozygote...
In mammals, the outflow tract (OFT) of developing heart septates into base pulmonary artery and aorta to guide deoxygenated right ventricular blood lungs oxygenated left systemic circulation. Accordingly, defective OFT septation is a life-threatening condition that can occur in both syndromic nonsyndromic congenital disease. Even though studies genetic mouse models have previously revealed requirement for VEGF-A, class 3 semaphorin SEMA3C, their shared receptor neuropilin 1 (NRP1)...
22q11 deletion syndrome (22q11DS) is characterised by aberrant development of the pharyngeal apparatus and heart with haploinsufficiency transcription factor TBX1 being considered major underlying cause disease. Tbx1 mutations in mouse phenocopy disorder. In order to identify transcriptional dysregulation Tbx1-expressing lineages we optimised fluorescent-activated cell sorting beta-galactosidase expressing cells (FACS-Gal) compare expression profile Df1/Tbx1(lacZ) (effectively null)...
GN refers to a variety of renal pathologies that often progress ESRD, but the molecular mechanisms underlying this progression remain incompletely characterized. Here, we determined whether dysregulated expression gap junction protein connexin 43, which has been observed in disease, contributes progression. Immunostaining revealed de novo 43 damaged glomeruli patients with glomerular diseases as well mice after induction experimental GN. Notably, 2 weeks nephrotoxic serum, heterozygous...
Background Tbx1 is a member of the Tbox family binding domain transcription factors. TBX1 maps within region chromosome 22q11 deleted in humans with DiGeorge syndrome (DGS), common genetic disorder characterized by numerous physical manifestations including craniofacial and cardiac anomalies. Mice homozygous null mutations phenocopy this have defects abnormal cranial ganglia formation neural crest cell migration. These prompted us to investigate whether extrinsic vagus nerve or intrinsic...
Renin is the key enzyme of systemic renin-angiotensin-aldosterone system, which plays an essential role in regulating blood pressure and maintaining electrolyte extracellular volume homeostasis. mainly produced secreted by specialized juxtaglomerular (JG) cells kidney. In present study, we report for first time that conserved transmembrane receptor neuropilin-1 (NRP1) participates development JG a renin production. We used myelin protein zero-Cre (P0-Cre) to abrogate Nrp1 constitutively...
Haploinsufficiency of the T-box transcription factor TBX1 is responsible for many features 22q11.2 deletion syndrome. Tbx1 expressed dynamically in pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation neural crest cell defects. These abnormalities prompted us to investigate whether parasympathetic (vagal) innervation heart was affected mutant embryos. In this report, we used an allelic series...
In the kidney, water reabsorption is mainly regulated by binding of arginine vasopressin to type 2 (V2) receptors. These receptors are expressed selectively in principal cells collecting ducts. To identify molecular mechanisms responsible for cell-specific expression V2 receptor, we have analyzed proximal promoter corresponding gene. We report identification a 33-bp enhancer [collecting duct tissue-specific element 1 (CSE1)] that induced high levels luciferase reporter gene three cell lines,...
In the kidney, water reabsorption is mainly regulated by binding of arginine vasopressin to type 2 (V2) receptors. These receptors are expressed selectively in principal cells collecting ducts. To identify molecular mechanisms responsible for cell-specific expression V2 receptor, we have analyzed proximal promoter corresponding gene. We report identification a 33-bp enhancer [collecting duct tissue-specific element 1 (CSE1)] that induced high levels luciferase reporter gene three cell lines,...
Background: Alterations of renal hemodynamics play an essential role in homeostasis and kidney diseases. Recent data indicated that semaphorin 3C (SEMA3C), a secreted glycoprotein involved vessel development, can modulate vascular permeability acute injury, but whether how it might impact systemic is unknown. Objectives: The objective the study was to explore effect SEMA3C on hemodynamics. Methods: recombinant protein administered intravenously two-month-old wild-type mice, variations mean...